Meacham Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MEACHS MCID: MCH011 MIFTS: 34	Meacham Syndrome (MEACHS) Categories: Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Meacham Syndrome

MalaCards integrated aliases for Meacham Syndrome:

Name: Meacham Syndrome ⁵⁶ ⁵⁸ ⁷³ ²⁹ ¹³ ⁶ ³⁹ ⁷¹

Rhabdomyomatous Dysplasia-Cardiopathy-Genital Anomalies Syndrome ⁵⁸

Meacham Winn Culler Syndrome ⁷¹

Meacham-Winn-Culler Syndrome ⁵⁸

Meachs ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

meacham syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Reproductive diseases Endocrine diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare gynaecological and obstetric diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 608978

ICD10 via Orphanet ³³ Q87.8

UMLS via Orphanet ⁷² C1837026 C2931752

Orphanet ⁵⁸ ORPHA3097

MedGen ⁴¹ C1837026

UMLS ⁷¹ C1837026 C2931752

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Summaries for Meacham Syndrome

UniProtKB/Swiss-Prot : ⁷³ Meacham syndrome: Rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic abnormalities.

MalaCards based summary : Meacham Syndrome, also known as rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome, is related to meacham winn culler syndrome and diaphragmatic hernia, congenital. An important gene associated with Meacham Syndrome is WT1 (WT1 Transcription Factor). Affiliated tissues include heart, uterus and lung, and related phenotypes are congenital diaphragmatic hernia and aplasia/hypoplasia of the lungs

More information from OMIM: 608978

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Related Diseases for Meacham Syndrome

Diseases related to Meacham Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	meacham winn culler syndrome	11.4
2	diaphragmatic hernia, congenital	10.1
3	denys-drash syndrome	10.1
4	nephrotic syndrome, type 4	10.1
5	wilms tumor 5	10.1
6	pseudohermaphroditism	10.1
7	genetic steroid-resistant nephrotic syndrome	10.1
8	septate vagina	10.1
9	diffuse mesangial sclerosis	9.6	WT1 LOC107982234
10	frasier syndrome	9.5	WT1 LOC107982234
11	wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	9.5	WT1 LOC107982234
12	aniridia 1	9.4	WT1 LOC107982234
13	wilms tumor 1	9.2	WT1 LOC107982234

Graphical network of the top 20 diseases related to Meacham Syndrome:

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Symptoms & Phenotypes for Meacham Syndrome

Human phenotypes related to Meacham Syndrome:

⁵⁸ ³¹ (show all 25)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	congenital diaphragmatic hernia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000776
2	aplasia/hypoplasia of the lungs ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0006703
3	ambiguous genitalia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000062
4	vaginal atresia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000148
5	abnormality of the fallopian tube ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011027
6	cryptorchidism ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000028
7	hypoplastic left heart ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004383
8	hypoplasia of penis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008736
9	hydrometrocolpos ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0030010
10	pulmonary sequestration ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100632
11	horseshoe kidney ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000085
12	ventricular septal defect ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001629
13	patent ductus arteriosus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001643
14	atrial septal defect ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001631
15	coarctation of aorta ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001680
16	tetralogy of fallot ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001636
17	abnormality of the spleen ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001743
18	situs inversus totalis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001696
19	transposition of the great arteries ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001669
20	aortic valve stenosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001650
21	anomalous pulmonary venous return ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010772
22	crossed fused renal ectopia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004736
23	abnormality of the vagina ⁵⁸		Very frequent (99-80%)
24	abnormal lung lobation ⁵⁸		Frequent (79-30%)
25	conotruncal defect ⁵⁸		Occasional (29-5%)

Clinical features from OMIM:

608978

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Drugs & Therapeutics for Meacham Syndrome

Search Clinical Trials , NIH Clinical Center for Meacham Syndrome

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Genetic Tests for Meacham Syndrome

Genetic tests related to Meacham Syndrome:

#	Genetic test	Affiliating Genes
1	Meacham Syndrome ²⁹	WT1

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Anatomical Context for Meacham Syndrome

MalaCards organs/tissues related to Meacham Syndrome:

⁴⁰

Heart, Uterus, Lung, Spleen, Kidney

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Publications for Meacham Syndrome

Articles related to Meacham Syndrome:

(show all 11)

#	Title	Authors	PMID	Year
1	WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. ⁶¹ ⁵⁶ ⁶	Suri M...Reardon W	17853480	2007
2	Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations--another case of Meacham syndrome. ⁶¹ ⁵⁶	Killeen OG...Reardon W	11822701	2002
3	Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. ⁶	Schumacher V...Royer-Pokora B	9607189	1998
4	A clinical overview of WT1 gene mutations. ⁶	Little M...Wells C	9090524	1997
5	Inherited WT1 mutation in Denys-Drash syndrome. ⁶	Coppes MJ...Williams BR	1327525	1992
6	Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. ⁶	Baird PN...Cowell JK	1338906	1992
7	Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. ⁶	Bruening W...Pelletier J	1302008	1992
8	Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype. ⁵⁶	Meacham LR...Parks JS	1844355	1991
9	Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. ⁶	Pelletier J...Fouser L	1655284	1991
10	Glomerulonephritis associated with male pseudohermaphroditism and nephroblastoma. ⁶	McCoy FE...Spargo BH	6307071	1983
11	Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect. ⁶¹	Cho HY...Choi Y	16932893	2006

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Genes for Meacham Syndrome

Genes related to Meacham Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	WT1	WT1 Transcription Factor	Protein Coding	1678.69	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	1327525 1302008 9090524 (more) 1338906 1655284 17853480 6307071 9607189
2	LOC107982234	WT1/WT1-AS Bi-Directional Promoter Region	Biological Region	8.77	GeneCards inferred via : Variants (show sections)

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Variations for Meacham Syndrome

ClinVar genetic disease variations for Meacham Syndrome:

⁶ (show top 50) (show all 92) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	WT1	NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)	SNV	Pathogenic	3487	rs121907900	11:32413566-32413566	11:32392020-32392020
2	WT1	NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)	SNV	Pathogenic	3497	rs121907906	11:32414263-32414263	11:32392717-32392717
3	WT1	NM_024426.6(WT1):c.1315C>T (p.Arg439Cys)	SNV	Pathogenic	3505	rs121907910	11:32414251-32414251	11:32392705-32392705
4	WT1	NM_024426.6(WT1):c.375C>T (p.Gly125=)	SNV	Conflicting interpretations of pathogenicity	241481	rs776209354	11:32456532-32456532	11:32434986-32434986
5	WT1	NM_024426.6(WT1):c.123G>C (p.Pro41=)	SNV	Conflicting interpretations of pathogenicity	193453	rs555140661	11:32456784-32456784	11:32435238-32435238
6	WT1	NM_024426.6(WT1):c.381C>G (p.Pro127=)	SNV	Conflicting interpretations of pathogenicity	261711	rs771681406	11:32456526-32456526	11:32434980-32434980
7	WT1	NM_024426.6(WT1):c.390A>G (p.Pro130=)	SNV	Conflicting interpretations of pathogenicity	304424	rs886048228	11:32456517-32456517	11:32434971-32434971
8	WT1	NM_024426.6(WT1):c.1200C>T (p.Tyr400=)	SNV	Conflicting interpretations of pathogenicity	304418	rs886048227	11:32417867-32417867	11:32396321-32396321
9	WT1	NM_024426.6(WT1):c.-106C>T	SNV	Conflicting interpretations of pathogenicity	304438	rs867975105	11:32457012-32457012	11:32435466-32435466
10	WT1	NM_024426.6(WT1):c.-140C>T	SNV	Uncertain significance	304442	rs886048244	11:32457046-32457046	11:32435500-32435500
11	WT1	NM_024426.6(WT1):c.1198T>C (p.Tyr400His)	SNV	Uncertain significance	304419	rs746353651	11:32417869-32417869	11:32396323-32396323
12	WT1	NM_024426.6(WT1):c.-90T>C	SNV	Uncertain significance	304435	rs886048238	11:32456996-32456996	11:32435450-32435450
13	WT1	NM_024426.6(WT1):c.*841C>A	SNV	Uncertain significance	304388	rs886048213	11:32409763-32409763	11:32388217-32388217
14	WT1	NM_024426.6(WT1):c.*269G>T	SNV	Uncertain significance	304409	rs886048225	11:32410335-32410335	11:32388789-32388789
15	WT1	NM_024426.6(WT1):c.*460C>A	SNV	Uncertain significance	304404	rs886048221	11:32410144-32410144	11:32388598-32388598
16	WT1	NM_024426.6(WT1):c.*393G>T	SNV	Uncertain significance	304405	rs886048222	11:32410211-32410211	11:32388665-32388665
17	WT1	NM_024426.6(WT1):c.*159G>C	SNV	Uncertain significance	304413	rs746218880	11:32410445-32410445	11:32388899-32388899
18	WT1	NM_024426.6(WT1):c.*741G>T	SNV	Uncertain significance	304393	rs886048216	11:32409863-32409863	11:32388317-32388317
19	WT1	NM_024426.6(WT1):c.*534C>T	SNV	Uncertain significance	304402	rs868546165	11:32410070-32410070	11:32388524-32388524
20	WT1	NM_024426.6(WT1):c.*366C>A	SNV	Uncertain significance	304406	rs886048223	11:32410238-32410238	11:32388692-32388692
21	WT1	NM_024426.6(WT1):c.*354G>T	SNV	Uncertain significance	304407	rs886048224	11:32410250-32410250	11:32388704-32388704
22	WT1	NM_024426.6(WT1):c.247G>T (p.Ala83Ser)	SNV	Uncertain significance	304427	rs886048231	11:32456660-32456660	11:32435114-32435114
23	WT1	NM_024426.6(WT1):c.174C>G (p.Leu58=)	SNV	Uncertain significance	304428	rs886048232	11:32456733-32456733	11:32435187-32435187
24	WT1	NM_024426.6(WT1):c.136G>T (p.Ala46Ser)	SNV	Uncertain significance	304430	rs886048233	11:32456771-32456771	11:32435225-32435225
25	WT1	NM_024426.6(WT1):c.-76T>C	SNV	Uncertain significance	304432	rs886048235	11:32456982-32456982	11:32435436-32435436
26	WT1	NM_024426.6(WT1):c.-86T>C	SNV	Uncertain significance	304434	rs886048237	11:32456992-32456992	11:32435446-32435446
27	WT1	NM_024426.6(WT1):c.-94G>C	SNV	Uncertain significance	304436	rs886048239	11:32457000-32457000	11:32435454-32435454
28	WT1	NM_024426.6(WT1):c.*1225T>C	SNV	Uncertain significance	304371	rs886048210	11:32409379-32409379	11:32387833-32387833
29	WT1	NM_024426.6(WT1):c.1021_1022GT[15]	short repeat	Uncertain significance	304379	rs58549495	11:32409550-32409553	11:32388004-32388007
30	WT1	NM_024426.6(WT1):c.1021_1022GT[19]	short repeat	Uncertain significance	304377	rs58549495	11:32409549-32409550	11:32388003-32388004
31	WT1	NM_024426.6(WT1):c.1021_1022GT[14]	short repeat	Uncertain significance	304381	rs58549495	11:32409550-32409555	11:32388004-32388009
32	WT1	NM_024426.6(WT1):c.1021_1022GT[20]	short repeat	Uncertain significance	304378	rs58549495	11:32409549-32409550	11:32388003-32388004
33	WT1	NM_024426.6(WT1):c.*785C>A	SNV	Uncertain significance	304391	rs886048214	11:32409819-32409819	11:32388273-32388273
34	WT1	NM_024426.6(WT1):c.*707C>A	SNV	Uncertain significance	304394	rs886048217	11:32409897-32409897	11:32388351-32388351
35	WT1	NM_024426.6(WT1):c.*574del	deletion	Uncertain significance	304400	rs5030319	11:32410030-32410030	11:32388484-32388484
36	WT1	NM_024426.6(WT1):c.162C>G (p.Ser54Arg)	SNV	Uncertain significance	304429	rs776954184	11:32456745-32456745	11:32435199-32435199
37	WT1	NM_024426.6(WT1):c.-82A>C	SNV	Uncertain significance	304433	rs886048236	11:32456988-32456988	11:32435442-32435442
38	WT1	NM_024426.6(WT1):c.-102C>A	SNV	Uncertain significance	304437	rs886048240	11:32457008-32457008	11:32435462-32435462
39	WT1	NM_024426.6(WT1):c.-110C>T	SNV	Uncertain significance	304439	rs886048241	11:32457016-32457016	11:32435470-32435470
40	WT1	NM_024426.6(WT1):c.-114T>A	SNV	Uncertain significance	304440	rs886048242	11:32457020-32457020	11:32435474-32435474
41	WT1	NM_024426.6(WT1):c.-135G>A	SNV	Uncertain significance	304441	rs886048243	11:32457041-32457041	11:32435495-32435495
42	WT1	NM_024426.6(WT1):c.*1058G>T	SNV	Uncertain significance	304376	rs886048211	11:32409546-32409546	11:32388000-32388000
43	WT1	NM_024426.6(WT1):c.1021_1022GT[18]	short repeat	Uncertain significance	304380	rs58549495	11:32409549-32409550	11:32388003-32388004
44	WT1	NM_024426.6(WT1):c.*685G>T	SNV	Uncertain significance	304395	rs886048218	11:32409919-32409919	11:32388373-32388373
45	WT1	NM_024426.6(WT1):c.*614A>C	SNV	Uncertain significance	304397	rs886048219	11:32409990-32409990	11:32388444-32388444
46	WT1	NM_024426.6(WT1):c.*110C>T	SNV	Uncertain significance	304415	rs757474299	11:32410494-32410494	11:32388948-32388948
47	WT1	NM_024426.6(WT1):c.887+4G>A	SNV	Uncertain significance	304421	rs778673400	11:32449498-32449498	11:32427952-32427952
48	WT1	NM_024426.6(WT1):c.83G>A (p.Gly28Glu)	SNV	Uncertain significance	241487	rs751641518	11:32456824-32456824	11:32435278-32435278
49	WT1	NM_024426.6(WT1):c.*768A>C	SNV	Uncertain significance	304392	rs886048215	11:32409836-32409836	11:32388290-32388290
50	WT1	NM_024426.6(WT1):c.*666A>G	SNV	Uncertain significance	304396	rs374306749	11:32409938-32409938	11:32388392-32388392

UniProtKB/Swiss-Prot genetic disease variations for Meacham Syndrome:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	WT1	p.Arg366Cys	VAR_007745
2	WT1	p.Arg394Trp	VAR_007750

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Expression for Meacham Syndrome

Search GEO for disease gene expression data for Meacham Syndrome.

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Pathways for Meacham Syndrome

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GO Terms for Meacham Syndrome

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Sources for Meacham Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Meacham Syndrome (MEACHS)

Aliases & Classifications for Meacham Syndrome

MalaCards integrated aliases for Meacham Syndrome:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Meacham Syndrome

Related Diseases for Meacham Syndrome

Diseases related to Meacham Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Meacham Syndrome:

Symptoms & Phenotypes for Meacham Syndrome

Human phenotypes related to Meacham Syndrome:

Clinical features from OMIM:

Drugs & Therapeutics for Meacham Syndrome

Genetic Tests for Meacham Syndrome

Genetic tests related to Meacham Syndrome:

Anatomical Context for Meacham Syndrome

MalaCards organs/tissues related to Meacham Syndrome:

Publications for Meacham Syndrome

Articles related to Meacham Syndrome:

Genes for Meacham Syndrome

Genes related to Meacham Syndrome (1 elite genes):

Variations for Meacham Syndrome

ClinVar genetic disease variations for Meacham Syndrome:

UniProtKB/Swiss-Prot genetic disease variations for Meacham Syndrome:

Expression for Meacham Syndrome

Pathways for Meacham Syndrome

GO Terms for Meacham Syndrome

Sources for Meacham Syndrome